Hauge X Y, Grandy D K, Eubanks J H, Evans G A, Civelli O, Litt M
Department of Medical Genetics, Oregon Health Sciences University, Portland 97201.
Genomics. 1991 Jul;10(3):527-30. doi: 10.1016/0888-7543(91)90431-d.
The gene encoding the dopamine D2 receptor (DRD2) has been suggested as a candidate gene for several mental disorders. We previously described the cloning and chromosomal mapping (to 11q22-q23) of a human DRD2 gene as well as its use for the detection of a two-allele TaqI RFLP with a minor allele frequency of 0.24, corresponding to a PIC of 0.30. Family linkage utilizing DRD2 would be facilitated if the PIC of the DRD2 locus were increased. To this end, we have used additional phage and cosmid clones in the vicinity of DRD2 to identify a new two-allele TaqI RFLP as well as a TG microsatellite polymorphism with a PIC of 0.62. We report localizations of the three polymorphisms on the restriction map of the DRD2 locus. The TaqI RFLPs are in apparent linkage equilibrium with the microsatellite, yielding a highly informative compound marker locus with a PIC of 0.76.
编码多巴胺D2受体（DRD2）的基因已被认为是几种精神障碍的候选基因。我们之前描述了人类DRD2基因的克隆和染色体定位（定位于11q22 - q23），以及其用于检测二等位基因TaqI限制性片段长度多态性（RFLP），其小等位基因频率为0.24，对应杂合度信息含量（PIC）为0.30。如果DRD2基因座的PIC增加，利用DRD2进行家系连锁分析将更容易。为此，我们在DRD2附近使用了额外的噬菌体和黏粒克隆，以鉴定一种新的二等位基因TaqI RFLP以及一个PIC为0.62的TG微卫星多态性。我们报告了这三种多态性在DRD2基因座限制性图谱上的定位。TaqI RFLP与微卫星明显处于连锁平衡状态，产生了一个信息高度丰富的复合标记基因座，其PIC为0.76。
